ClinVar Miner

List of variants in gene OFD1 studied for Orofaciodigital syndrome I

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NC_000023.10:g.(?_13752866)_(13757152_13762533)del
NC_000023.11:g.13738845G>T
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.112-11T>G
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1358_1362del (p.Lys452_Leu453insTer) rs2047724604
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) rs1569145145
NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg) rs2047796952
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.2289dup (p.Ser764fs) rs2047910158
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.237_243delinsGCCTA (p.Asp80fs) rs2146913390
NM_003611.3(OFD1):c.2488+1G>A rs2147060461
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) rs1602942625
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.312+1del rs312262822
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_003611.3(OFD1):c.363del (p.Ser122fs) rs1555901146
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_003611.3(OFD1):c.412+2_412+5del
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs) rs1602826217
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.839_840del (p.Lys280fs)
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858

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